| - GRCh37:
- Chr5:151208619-151208620
- GRCh38:
- Chr5:151829058-151829059
| GLRA1 | V225fs, V308fs | Hyperekplexia 1 | Likely pathogenic
(May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151271909
- GRCh38:
- Chr5:151892348
| GLRA1 | S50fs | Hyperekplexia 1 | Likely pathogenic
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304097
- GRCh38:
- Chr5:151924536
| GLRA1 | N5S | Hyperekplexia 1 | Uncertain significance
(Mar 13, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151202358
- GRCh38:
- Chr5:151822797
| GLRA1 | I417N, I326N, I409N | Hereditary hyperekplexia, Hyperekplexia 1 | Uncertain significance
(Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151266343
- GRCh38:
- Chr5:151886782
| GLRA1 | P64L | Hyperekplexia 1 | Uncertain significance
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151231127
- GRCh38:
- Chr5:151851566
| GLRA1 | R163W, R246W | Hyperekplexia 1, Hereditary hyperekplexia | Pathogenic/Likely pathogenic
(Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151234623
- GRCh38:
- Chr5:151855062
| GLRA1 | Y142*, Y225* | Hyperekplexia 1 | Pathogenic
(Dec 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151239476
- GRCh38:
- Chr5:151859915
| GLRA1 | S116P, S33P | Hyperekplexia 1 | Uncertain significance
(Jan 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr14:67243213
- GRCh38:
- Chr14:66776495
| GPHN | V59I | Hyperekplexia 1 | Uncertain significance
(Aug 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151231167
- GRCh38:
- Chr5:151851606
| GLRA1 | | Hyperekplexia 1 | Likely pathogenic
(Oct 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304089
- GRCh38:
- Chr5:151924528
| GLRA1 | R8* | GLRA1-related condition, Hereditary hyperekplexia, Hyperekplexia 1
| Conflicting interpretations of pathogenicity
(Nov 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151234729
- GRCh38:
- Chr5:151855168
| GLRA1 | T107M, T190M | not provided, Hereditary hyperekplexia, Hyperekplexia 1
| Pathogenic/Likely pathogenic
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151271870
- GRCh38:
- Chr5:151892309
| GLRA1 | | Hyperekplexia 1 | Likely pathogenic
(Jul 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151271950
- GRCh38:
- Chr5:151892389
| GLRA1 | M36V | Hyperekplexia 1 | Uncertain significance
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151266358
- GRCh38:
- Chr5:151886797
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Likely benign
(Nov 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151239498
- GRCh38:
- Chr5:151859937
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Benign/Likely benign
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151235949
- GRCh38:
- Chr5:151856388
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Conflicting interpretations of pathogenicity
(May 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151234713
- GRCh38:
- Chr5:151855152
| GLRA1 | | Hyperekplexia 1 | Likely benign
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304191
- GRCh38:
- Chr5:151924630
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151234602
- GRCh38:
- Chr5:151855041
| GLRA1 | | Hereditary hyperekplexia, not provided, Hyperekplexia 1
| Uncertain significance
(Apr 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151234739
- GRCh38:
- Chr5:151855178
| GLRA1 | | Hyperekplexia 1 | Likely pathogenic
(Jan 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304062
- GRCh38:
- Chr5:151924501
| GLRA1 | F17L | Hereditary hyperekplexia, Hyperekplexia 1 | Uncertain significance
(Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202403
- GRCh38:
- Chr5:151822842
| GLRA1 | P402R, P394R, P311R | Hereditary hyperekplexia, Hyperekplexia 1 | Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151266328
- GRCh38:
- Chr5:151886767
| GLRA1 | C69Y | Hyperekplexia 1 | Likely pathogenic
(Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151235861
- GRCh38:
- Chr5:151856300
| GLRA1 | | Hyperekplexia 1 | Likely pathogenic
(Jul 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151208509
- GRCh38:
- Chr5:151828948
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Benign/Likely benign
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151239419
- GRCh38:
- Chr5:151859858
| GLRA1 | H52fs, H135fs | Hyperekplexia 1 | Likely pathogenic
(Dec 23, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151271852-151304130
- GRCh38:
- Chr5:151892291-151924569
| GLRA1, LOC123575602 | | Hyperekplexia 1, Hereditary hyperekplexia | Uncertain significance
(Aug 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304053
- GRCh38:
- Chr5:151924492
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Oct 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304035-151304130
- GRCh38:
- Chr5:151924474-151924569
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Pathogenic
(May 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151239373
- GRCh38:
- Chr5:151859812
| GLRA1 | R150P, R67P | Hyperekplexia 1 | Uncertain significance
(May 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr14:67391007
- GRCh38:
- Chr14:66924290
| GPHN | R276W | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
| Uncertain significance
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202288
- GRCh38:
- Chr5:151822727
| GLRA1 | M432I, M440I, M349I | Hyperekplexia 1, Hereditary hyperekplexia, Inborn genetic diseases
| Conflicting interpretations of pathogenicity
(Oct 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr14:67147887
- GRCh38:
- Chr14:66681169
| GPHN | V43I | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1
| Uncertain significance
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202338
- GRCh38:
- Chr5:151822777
| GLRA1 | D424N, D333N, D416N | Hyperekplexia 1 | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr5:151202289
- GRCh38:
- Chr5:151822728
| GLRA1 | M432T, M440T, M349T | Hyperekplexia 1, Hereditary hyperekplexia, Inborn genetic diseases
| Uncertain significance
(Mar 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202259
- GRCh38:
- Chr5:151822698
| GLRA1 | R442H, R450H, R359H | Hyperekplexia 1, Hereditary hyperekplexia, not provided
| Uncertain significance
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151266280
- GRCh38:
- Chr5:151886719
| GLRA1 | | Hyperekplexia 1 | Pathogenic
(May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151235945
- GRCh38:
- Chr5:151856384
| GLRA1 | | Hyperekplexia 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr14:67390981
- GRCh38:
- Chr14:66924264
| GPHN | N267S | Inborn genetic diseases, not provided, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,
Hyperekplexia 1, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
| Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr14:67610127
- GRCh38:
- Chr14:67143410
| GPHN | | not provided, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C,
Hyperekplexia 1 | Benign/Likely benign
(Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151234688
- GRCh38:
- Chr5:151855127
| GLRA1 | V204M, V121M | Hereditary hyperekplexia, Hyperekplexia 1 | Uncertain significance
(Jan 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151304061
- GRCh38:
- Chr5:151924500
| GLRA1 | F17S | Hereditary hyperekplexia, Hyperekplexia 1 | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151208531
- GRCh38:
- Chr5:151828970
| GLRA1 | R337Q, R254Q | Inborn genetic diseases, Hyperekplexia 1, Hereditary hyperekplexia
| Uncertain significance
(Jan 10, 2023) | criteria provided, multiple submitters, no conflicts |
| | | | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| | | | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| | | | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151304381
- GRCh38:
- Chr5:151924820
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304306
- GRCh38:
- Chr5:151924745
| GLRA1 | | not provided, Hyperekplexia 1 | Benign
(Jul 17, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151304274
- GRCh38:
- Chr5:151924713
| GLRA1 | | Hyperekplexia 1 | Likely benign
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304240
- GRCh38:
- Chr5:151924679
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304190
- GRCh38:
- Chr5:151924629
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151304088
- GRCh38:
- Chr5:151924527
| GLRA1 | R8P | Hereditary hyperekplexia, Hyperekplexia 1 | Benign/Likely benign
(Oct 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151271962
- GRCh38:
- Chr5:151892401
| GLRA1 | A32T | Hyperekplexia 1, Hereditary hyperekplexia | Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151271939
- GRCh38:
- Chr5:151892378
| GLRA1 | | not provided, Hyperekplexia 1, Hereditary hyperekplexia
| Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151266336
- GRCh38:
- Chr5:151886775
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Likely benign
(Jun 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151239583
- GRCh38:
- Chr5:151860022
| GLRA1 | | Hyperekplexia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151239432
- GRCh38:
- Chr5:151859871
| GLRA1 | | not provided, Hyperekplexia 1, Hereditary hyperekplexia
| Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151239373
- GRCh38:
- Chr5:151859812
| GLRA1 | R150Q, R67Q | Hyperekplexia 1, Hereditary hyperekplexia | Benign/Likely benign
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151235899
- GRCh38:
- Chr5:151856338
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Benign/Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151235854
- GRCh38:
- Chr5:151856293
| GLRA1 | | not provided, Hyperekplexia 1, Hereditary hyperekplexia
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151234592
- GRCh38:
- Chr5:151855031
| GLRA1 | | Hyperekplexia 1, Hereditary hyperekplexia | Conflicting interpretations of pathogenicity
(Jul 15, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151231141
- GRCh38:
- Chr5:151851580
| GLRA1 | R241Q, R158Q | Hyperekplexia 1, Hereditary hyperekplexia | Benign
(Sep 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151231140
- GRCh38:
- Chr5:151851579
| GLRA1 | | not provided, Hyperekplexia 1, Hereditary hyperekplexia
| Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151208548
- GRCh38:
- Chr5:151828987
| GLRA1 | | not provided, Hyperekplexia 1, Hereditary hyperekplexia
| Benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151208500
- GRCh38:
- Chr5:151828939
| GLRA1 | | not provided, Hereditary hyperekplexia, Hyperekplexia 1
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151208495
- GRCh38:
- Chr5:151828934
| GLRA1 | R349Q, R266Q | Inborn genetic diseases, not provided, Hereditary hyperekplexia,
Hyperekplexia 1 | Benign/Likely benign
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202403
- GRCh38:
- Chr5:151822842
| GLRA1 | P394L, P402L, P311L | not provided, Hereditary hyperekplexia, Hyperekplexia 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202370
- GRCh38:
- Chr5:151822809
| GLRA1 | R405Q, R413Q, R322Q | Hereditary hyperekplexia, Hyperekplexia 1 | Benign/Likely benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202360
- GRCh38:
- Chr5:151822799
| GLRA1 | | not provided, Hereditary hyperekplexia, Hyperekplexia 1
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151202251
- GRCh38:
- Chr5:151822690
| GLRA1 | D445Y, D453Y, D362Y | Hyperekplexia 1 | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151202243
- GRCh38:
- Chr5:151822682
| GLRA1 | | Hereditary hyperekplexia, Hyperekplexia 1 | Benign/Likely benign
(Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151239545
- GRCh38:
- Chr5:151859984
| GLRA1 | R93W, R10W | Hereditary hyperekplexia, Hyperekplexia 1 | Likely pathogenic
(Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151234705
- GRCh38:
- Chr5:151855144
| GLRA1 | W198S, W115S | Hyperekplexia 1 | Uncertain significance
(Dec 30, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:151234601-151304397
- GRCh38:
- Chr5:151855040-151924836
| GLRA1, LOC123575602 | | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151208620
- GRCh38:
- Chr5:151829059
| GLRA1 | | Hereditary hyperekplexia | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151208621
- GRCh38:
- Chr5:151829060
| GLRA1 | Y307S, Y224S | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151230971
- GRCh38:
- Chr5:151851410
| GLRA1 | S298T, S215T | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151231062
- GRCh38:
- Chr5:151851501
| GLRA1 | W267C, W184C | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151231126
- GRCh38:
- Chr5:151851565
| GLRA1 | R246Q, R163Q | Hereditary hyperekplexia | Pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151239523
- GRCh38:
- Chr5:151859962
| GLRA1 | R100H, R17H | Hereditary hyperekplexia | Likely pathogenic
(Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151202476
- GRCh38:
- Chr5:151822915
| GLRA1 | G378S, G370S, G287S | Hereditary hyperekplexia, not provided, not specified,
Hyperekplexia 1 | Benign/Likely benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151230979
- GRCh38:
- Chr5:151851418
| GLRA1 | S295N, S212N | Hyperekplexia 1 | Pathogenic
(Feb 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr5:151208570
- GRCh38:
- Chr5:151829009
| GLRA1 | S324*, S241* | Hereditary hyperekplexia, not provided | Pathogenic
(Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| | GLRA1 | | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151231086
- GRCh38:
- Chr5:151851525
| GLRA1 | S259R, S176R | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151231001
- GRCh38:
- Chr5:151851440
| GLRA1 | V288M, V205M | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151234608
- GRCh38:
- Chr5:151855047
| GLRA1 | Y230*, Y147* | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151235898
- GRCh38:
- Chr5:151856337
| GLRA1 | M175V, M92V | Hereditary hyperekplexia, Hyperekplexia 1 | Conflicting interpretations of pathogenicity
(Apr 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr5:151239524
- GRCh38:
- Chr5:151859963
| GLRA1 | R100fs, R17fs | Hereditary hyperekplexia | Pathogenic
(Sep 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151231031
- GRCh38:
- Chr5:151851470
| GLRA1 | P278T, P195T | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151230953
- GRCh38:
- Chr5:151851392
| GLRA1 | K304E, K221E | not provided | Pathogenic
(Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151230981
- GRCh38:
- Chr5:151851420
| GLRA1 | Q294H, Q211H | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151208621
- GRCh38:
- Chr5:151829060
| GLRA1 | Y307C, Y224C | Hereditary hyperekplexia, Hyperekplexia 1 | Pathogenic
(Aug 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151231048
- GRCh38:
- Chr5:151851487
| GLRA1 | I272N, I189N | Hyperekplexia 1 | Pathogenic
(Oct 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:151230967
- GRCh38:
- Chr5:151851406
| GLRA1 | R299Q, R216Q | Hereditary hyperekplexia, not provided, Hyperekplexia 1,
Sleep myoclonus | Pathogenic
(Aug 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:151230967
- GRCh38:
- Chr5:151851406
| GLRA1 | R299L, R216L | Hereditary hyperekplexia | Likely pathogenic
(Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr14:66975273
- GRCh38:
- Chr14:66508555
| GPHN | N10Y | Inborn genetic diseases, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Hyperekplexia 1,
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |